Canonical Allele Identifier: CA3273045
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs771681489
gnomAD v2: 5-56177711-A-C
gnomAD v3: 5-56881884-A-C
gnomAD v4: 5-56881884-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881884A>C , CM000667.2:g.56881884A>C GRCh38
NC_000005.9:g.56177711A>C , CM000667.1:g.56177711A>C GRCh37
NC_000005.8:g.56213468A>C NCBI36
NG_031884.1:g.71812A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.2684A>C MANE Select ENSP00000382423.3:p.Glu895Ala
ENST00000399503.3:c.2684A>C ENSP00000382423.3:p.Glu895Ala
NM_005921.1:c.2684A>C NP_005912.1:p.Glu895Ala
XM_005248519.3:c.2306A>C XP_005248576.2:p.Glu769Ala
XM_011543406.1:c.2429A>C XP_011541708.1:p.Glu810Ala
XM_011543407.1:c.2405A>C XP_011541709.1:p.Glu802Ala
XM_011543408.1:c.2684A>C XP_011541710.1:p.Glu895Ala
XM_017009484.1:c.2273A>C XP_016864973.1:p.Glu758Ala
XM_017009485.1:c.2195A>C XP_016864974.1:p.Glu732Ala
XR_001742068.2:n.2715A>C
NM_005921.2:c.2684A>C MANE Select NP_005912.1:p.Glu895Ala